Variant report

Variant	rs57496473
Chromosome Location	chr5:126255636-126255637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:126255565-126255675	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126254514..126256052-chr5:126261032..126263860,2	K562	blood:

Variant related genes	Relation type
MARCH3	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11241915	0.89[ASN][1000 genomes]
rs17165220	0.89[ASN][1000 genomes]
rs17165223	0.85[ASN][1000 genomes]
rs17839706	0.89[ASN][1000 genomes]
rs2240529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2240530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55736801	0.89[ASN][1000 genomes]
rs55780389	1.00[ASN][1000 genomes]
rs55807699	0.89[ASN][1000 genomes]
rs55887767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55926617	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55958512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56063325	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56102558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56298765	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57273792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57394214	0.89[ASN][1000 genomes]
rs57448612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57691405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58170839	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs59022768	0.89[ASN][1000 genomes]
rs59255338	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59584486	0.89[ASN][1000 genomes]
rs59722252	1.00[ASN][1000 genomes]
rs60381307	0.89[ASN][1000 genomes]
rs60409361	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61137046	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61563447	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61563838	0.89[ASN][1000 genomes]
rs73783474	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783479	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783483	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783485	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73783486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783511	1.00[ASN][1000 genomes]
rs73783517	0.89[ASN][1000 genomes]
rs73783518	0.89[ASN][1000 genomes]
rs73783519	0.89[ASN][1000 genomes]
rs73783522	0.89[ASN][1000 genomes]
rs73786208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786289	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786297	1.00[ASN][1000 genomes]
rs73786300	1.00[ASN][1000 genomes]
rs73786301	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786302	1.00[ASN][1000 genomes]
rs73787405	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73787409	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126233800-126256000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:126237800-126256000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:126238200-126256000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:126244400-126257000	Weak transcription	Fetal Thymus	thymus
5	chr5:126244400-126261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:126245400-126256000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:126245800-126256600	Weak transcription	Thymus	Thymus
8	chr5:126246200-126256600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:126246200-126259800	Weak transcription	Fetal Kidney	kidney
10	chr5:126246400-126256000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:126247600-126256600	Enhancers	Fetal Heart	heart
12	chr5:126247800-126257200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:126248000-126257000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:126248800-126256200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:126249000-126256800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:126251000-126256200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:126251000-126256200	Weak transcription	Esophagus	oesophagus
18	chr5:126251000-126256200	Weak transcription	Spleen	Spleen
19	chr5:126251000-126257800	Weak transcription	Ovary	ovary
20	chr5:126251400-126256200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:126251600-126256200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:126253400-126256600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:126253600-126256200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:126253600-126256400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:126253600-126256600	Enhancers	HUVEC	blood vessel
26	chr5:126253600-126257200	Enhancers	Pancreas	Pancrea
27	chr5:126253600-126300400	Weak transcription	Primary B cells from cord blood	blood
28	chr5:126253800-126256000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:126253800-126256400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:126253800-126257000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:126253800-126257200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr5:126253800-126257400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:126253800-126258000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:126254000-126256000	Weak transcription	Primary T cells from cord blood	blood
35	chr5:126254000-126256200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:126254000-126256200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:126254000-126256200	Weak transcription	Fetal Intestine Small	intestine
38	chr5:126254000-126257000	Weak transcription	Lung	lung
39	chr5:126254000-126258000	Enhancers	Brain Germinal Matrix	brain
40	chr5:126254000-126261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:126254000-126277800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:126254000-126278800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:126254200-126256200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:126254200-126256600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:126254200-126256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:126254200-126257200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:126254200-126257800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:126254600-126256000	Enhancers	Left Ventricle	heart
49	chr5:126254600-126256000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:126254600-126256400	Enhancers	Adipose Nuclei	Adipose

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